Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954122C>A , CM000670.2:g.19954122C>A | GRCh38 |
| NC_000008.10:g.19811633C>A , CM000670.1:g.19811633C>A | GRCh37 |
| NC_000008.9:g.19855913C>A | NCBI36 |
| NG_008855.1:g.20052C>A | |
| NG_008855.2:g.57406C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.544C>A MANE Select | ENSP00000497642.1:p.Leu182Ile | |
| ENST00000311322.8:c.544C>A | ENSP00000309757.6:p.Leu182Ile | |
| ENST00000520959.5:c.316C>A | ENSP00000428496.1:p.Leu106Ile | |
| NM_000237.2:c.544C>A | NP_000228.1:p.Leu182Ile | |
| NM_000237.3:c.544C>A MANE Select | NP_000228.1:p.Leu182Ile |